Wongkittichote P, Upchurch GM, Dehner LP, Wood T, Granadillo JL. Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant. Mol Genet Metab Rep. 2021 Jun;27:100747. PubMed PMID: 33854947
Ziats CA, Burns WB, Tedder ML, Pollard L, Wood T, Champaigne NL. 3-Methylglutaconic aciduria in carriers of primary carnitine deficiency. Eur J Med Genet. 2021 Dec;64(12):104365. PubMed PMID: 34637945
Wongkittichote P, Upchurch GM, Dehner LP, Wood T, Granadillo JL. Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant. Mol Genet Metab Rep. 2021 Jun;27:100747. PubMed PMID: 33854947
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Mol Genet Metab. 2021 Jan;132(1):27-37. PubMed PMID: 33129689
Grand rounds – “Pseudodeficiency in lysosomal storage disorders” – Genetics and Metabolism, University of Colorado Anschutz medical campus
Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Hum Mutat. 2021 Nov;42(11):1384-1398. PubMed PMID: 34387910
Kumar AB, Hong X, Yi F, Wood T, Gelb MH. Tandem mass spectrometry-based multiplex assays for a-mannosidosis and fucosidosis. Mol Genet Metab. 2019 Jul;127(3):207-211. PubMed PMID: 31235216
Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE. CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance. Genet Med. 2018 Jan;20(1):83-90. PubMed PMID: 28661487
Huang R, Cathey S, Pollard L, Wood T. UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. Clin Chem. 2018 Dec;64(12):1772-1779. PubMed PMID: 30201803
Gupta AO. Patterson MC, Wood T, Eisengart JB, Orchard PJ, Lund TC. Hematopoietic cell transplantation for sialidosis type I. Molecular genetics and metabolism reports. 2022 Mar:30.
Erin T. Strovel, Kristina Cusmano-Ozog, Tim Wood, Chunli Yu
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)